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LOVD - Variant listings for HBA1

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365 entries
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Exon Hide Exon column Descending
Ascending
DNA change   Descending
Ascending
RNA change Hide RNA change column Descending
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Protein Hide Protein column Descending
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Re-site Hide Re-site column Descending
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Frequency Hide Frequency column Descending
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DB-ID Hide DB-ID column Descending
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HbVar link Hide HbVar link column Descending
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2 HBA1:c.100T>G - p.Phe34Val - - HBA1_02280 -
2 HBA1:c.104T>G - p.Leu35Arg - - HBA1_00048 HbVar
2 HBA1:c.110T>A - p.Phe37Tyr - - HBA1_01884 HbVar
2 HBA1:c.112_114delCCC - - - - HBA1_00195 HbVar
2 HBA1:c.113C>G - p.Pro38Arg - - HBA1_00049 HbVar
2 HBA1:c.114_115insGAA - - - - HBA1_00187 HbVar
2 HBA1:c.115A>G - p.Thr39Ala - - HBA1_01606 HbVar
2 HBA1:c.116C>T - p.Thr39Ile - - HBA1_00234 HbVar
2 HBA1:c.118_120delACC - - - - HBA1_00185 HbVar
2 HBA1:c.121A>G - p.Lys41Glu - - HBA1_00050 HbVar
2 HBA1:c.122A>C - p.Lys41Thr - - HBA1_00244 HbVar
2 HBA1:c.123G>C - p.Lys41Asn - - HBA1_00213 HbVar
2 HBA1:c.128A>C - p.Tyr43Ser - - HBA1_01701 HbVar
2 HBA1:c.130T>G - p.Phe44Val - - HBA1_00052 HbVar
2 HBA1:c.133C>G
  (Reported 2 times)		 - p.Pro45Ala - - HBA1_00217 HbVar
2 HBA1:c.133C>T
  (Reported 2 times)		 - p.Pro45Ser - - HBA1_01976 -
2 HBA1:c.134C>G - p.Pro45Arg - - HBA1_00054 HbVar
2 HBA1:c.134C>T - p.Pro45Leu - - HBA1_00053 HbVar
2 HBA1:c.134_135insC - - - - HBA1_01818 HbVar
2 HBA1:c.136C>G - p.His46Asp - - HBA1_00057 HbVar
2 HBA1:c.136C>T - p.His46Tyr - - HBA1_00058 HbVar
2 HBA1:c.137A>G - p.His46Arg - - HBA1_00055 HbVar
2 HBA1:c.138C>G - p.His46Gln - - HBA1_00056 HbVar
2 HBA1:c.139T>C or 141C>G or 141C>A - p.Phe47Leu - - HBA1_00198 HbVar
2 HBA1:c.139T>G - p.Phe47Val - - HBA1_00259 HbVar
2 HBA1:c.142G>A - p.Asp48Asn - - HBA1_00060 HbVar
2 HBA1:c.143A>C - p.Asp48Ala - - HBA1_00061 HbVar
2 HBA1:c.143A>G - p.Asp48Gly - - HBA1_00059 HbVar
2 HBA1:c.146T>C - p.Leu49Pro - - HBA1_01568 HbVar
2 HBA1:c.148A>C
  (Reported 2 times)		 - p.Ser50Arg - - HBA1_02016 -
2 HBA1:c.149G>A - p.Ser50Asn - - HBA1_01892 HbVar
2 HBA1:c.151C>T - p.His51Tyr - - HBA1_01601 HbVar
2 HBA1:c.151_152insGGAGCC - - - - HBA1_01855 HbVar
2 HBA1:c.152A>G - p.His51Arg - - HBA1_00062 HbVar
2 HBA1:c.152A>T - p.His51Leu - - HBA1_00235 HbVar
2 HBA1:c.153C>A or 153C>G - p.His51Gln - - HBA1_00063 HbVar
2 HBA1:c.154G>A - p.Gly52Ser - - HBA1_00230 HbVar
2 HBA1:c.154G>C - p.Gly52Arg - - HBA1_00065 HbVar
2 HBA1:c.155G>A - p.Gly52Asp - - HBA1_00064 HbVar
2 HBA1:c.155_167delGCTCTGCCCAGGT - - - - HBA1_00207 HbVar
2 HBA1:c.157T>G - p.Ser53Ala - - HBA1_01812 HbVar
2 HBA1:c.157_180del - - - - HBA1_00186 HbVar
2 HBA1:c.161C>A - p.Ala54Asp - - HBA1_00066 HbVar
2 HBA1:c.163C>G - p.Gln55Glu - - HBA1_00068 HbVar
2 HBA1:c.164A>C - p.Ala54Pro - - HBA1_01830 HbVar
2 HBA1:c.164A>G - p.Gln55Arg - - HBA1_00067 HbVar
2 HBA1:c.166G>C - p.Val56Leu - - HBA1_00192 HbVar
2 HBA1:c.167T>C - p.Val56Ala - - HBA1_00249 HbVar
2 HBA1:c.169A>G - p.Lys57Glu - - HBA1_00070 HbVar
2 HBA1:c.170A>C - p.Lys57Thr - - HBA1_00069 HbVar
2 HBA1:c.170A>G - p.Lys57Arg - - HBA1_00072 HbVar
2 HBA1:c.171_172insAGCCACGGCTCTGCCCAAGTTAAG - - - - HBA1_02113 -
2 HBA1:c.171_172insAGCCACGGCTCTGCCCAAGTTAGG - - - - HBA1_01993 -
2 HBA1:c.172G>C - p.Gly58Arg - - HBA1_00073 HbVar
2 HBA1:c.173G>A - p.Gly58Asp - - HBA1_00074 HbVar
2 HBA1:c.175C>T - p.His59Tyr - - HBA1_00075 HbVar
2 HBA1:c.176A>T
  (Reported 2 times)		 - p.His59Leu - - HBA1_01996 -
2 HBA1:c.178G>A - p.Gly60Ser - - HBA1_00243 HbVar
2 HBA1:c.179G>A - p.Gly60Asp - - HBA1_00077 HbVar
2 HBA1:c.179G>T - p.Gly60Val - - HBA1_00076 HbVar
2 HBA1:c.181A>G - p.Lys61Glu - - HBA1_00079 HbVar
2 HBA1:c.184A>G - p.Lys62Glu - - HBA1_00081 HbVar
2 HBA1:c.184_186delAAG - - - - HBA1_00204 HbVar
2 HBA1:c.185A>G - p.Lys62Arg - - HBA1_01885 HbVar
2 HBA1:c.187delG - - - - HBA1_01864 HbVar
2 HBA1:c.187_189delGTG - - - - HBA1_00196 HbVar
2 HBA1:c.188T>C - p.Val63Ala - - HBA1_01821 HbVar
2 HBA1:c.189delG - - - - HBA1_01624 HbVar
2 HBA1:c.190G>A - p.Ala64Thr - - HBA1_01934 HbVar
2 HBA1:c.191C>A - p.Ala64Asp - - HBA1_00082 HbVar
2 HBA1:c.193G>A - p.Asp65Asn - - HBA1_01854 HbVar
2 HBA1:c.193G>C - p.Asp65His - - HBA1_00084 HbVar
2 HBA1:c.193G>T - p.Asp65Tyr - - HBA1_00083 HbVar
2 HBA1:c.194A>C - p.Asp65Ala - - HBA1_01781 HbVar
2 HBA1:c.194A>G - p.Asp65Gly - - HBA1_00085 HbVar
2 HBA1:c.197C>T - p.Ala66Val - - HBA1_00086 HbVar
2 HBA1:c.202delA
  (Reported 2 times)		 - - - - HBA1_02019 -
2 HBA1:c.205A>C - p.Asn69His - - HBA1_00237 HbVar
2 HBA1:c.205A>G - p.Asn69Asp - - HBA1_00088 HbVar
2 HBA1:c.205A>T - p.Asn69Tyr - - HBA1_01605 HbVar
2 HBA1:c.207_208insGCGCTGACCAAC - - - - HBA1_00223 HbVar
2 HBA1:c.211G>A - p.Val71Met - - HBA1_00248 HbVar
2 HBA1:c.214G>A - p.Ala72Thr - - HBA1_01576 HbVar
2 HBA1:c.215C>A - p.Ala72Glu - - HBA1_00089 HbVar
2 HBA1:c.215C>T
  (Reported 2 times)		 - p.Ala72Val - - HBA1_00090 HbVar
2 HBA1:c.217C>T - p.His73Tyr - - HBA1_00092 HbVar
2 HBA1:c.218A>G - p.His73Arg - - HBA1_00091 HbVar
2 HBA1:c.219C>G
  (Reported 2 times)		 - p.His73Gln - - HBA1_01962 -
2 HBA1:c.220G>A - p.Val74Met - - HBA1_01894 HbVar
2 HBA1:c.223G>A - p.Asp75Asn - - HBA1_00095 HbVar
2 HBA1:c.223G>C - p.Asp75His - - HBA1_00093 HbVar
2 HBA1:c.224A>C - p.Asp75Ala - - HBA1_00094 HbVar
2 HBA1:c.224A>G - p.Asp75Gly - - HBA1_00096 HbVar
2 HBA1:c.224A>T - p.Asp75Val - - HBA1_01574 HbVar
2 HBA1:c.226G>A - p.Asp76Asn - - HBA1_00100 HbVar
2 HBA1:c.226G>C - p.Asp76His - - HBA1_00097 HbVar
2 HBA1:c.226G>T - p.Asp76Tyr - - HBA1_00099 HbVar
2 HBA1:c.227A>C - p.Asp76Ala - - HBA1_00098 HbVar
2 HBA1:c.227A>G - p.Asp76Gly - - HBA1_00101 HbVar
2 HBA1:c.230T>A - p.Met77Lys - - HBA1_00102 HbVar
101 - 200
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Legend: [ HBA1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Genomic Reference Sequence.
Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency if variant is non pathogenic. HBA1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. HbVar link: HbVar link

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